Shank3 mutations and HCN channelopathy: one size does not fit all

Overview

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Most chemical reactions in cells require enzymes—biological catalysts that speed up the reaction without being consumed or permanently changed. They reduce the activation energy needed to convert the reactants into products. Enzymes are proteins, that usually work by binding to a substrate—a reactant molecule that they act upon.
Enzymes exhibit substrate specificity, meaning that they can only bind to certain substrates. This is mainly determined by the shape and chemical...

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Most altruistic behavior—in which one animal helps another at a cost to themselves—occurs between relatives. Scientists think these altruistic behaviors evolved because they increase the inclusive fitness of the animal providing help.

The goodness-of-fit test is a type of hypothesis test which determines whether the data "fits" a particular distribution. For example, one may suspect that some anonymous data may fit a binomial distribution. A chi-square test (meaning the distribution for the hypothesis test is chi-square) can be used to determine if there is a fit. The null and alternative hypotheses may be written in sentences or stated as equations or inequalities. The test statistic for a goodness-of-fit test is given as...